The mutation in the sandy mouse has been attributed to a deletion in the Dtnbp1 gene from intron 5 nucleotide 3701 to intron 7 nucleotide 12377. The deletion results in the loss of 52 amino acids from position 119-172 and abolishes expression of the protein. Western analysis did not detect protein in hippocampus tissue from homozygous mutant mice. (J:85123, J:169460)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
DBA/2J
Spontaneous
Intragenic deletion
Recessive
1
4
60

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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